Article
Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report.
Molecular biology reports - 28 Jan 2024
El Mouhi Hinde, Amllal Nada, Abbassi Meriame, Nedbour Ayoub, Jalte Meryem, Lyahyai Jaber, Chafai Elalaoui Siham, Bouguenouch Laila, Chaouki Sana
Abstract excerpt
Dravet syndrome is a severe form of epilepsy characterised by recurrent seizures and cognitive impairment. It is mainly caused by variant in the SCN1A gene in 90% of cases, which codes for the α subunit of the voltage-gated sodium channel. In this study, we present one suspected case of Dravet syndrome in Moroccan child that underwent exome analysis and were confirmed by Sanger sequencing. The variant was...
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